Linked Data
ClinVar Variation Id:
52763
ClinVar RCV Id:
RCV000045732
RCV000077461
RCV000210144
RCV000163027
RCV000221843
RCV000585715
RCV001356308
RCV000770736
dbSNP Id:
rs45580035
ExAC:
13:32954180 C / T
gnomAD v2:
13-32954180-C-T
gnomAD v4:
13-32380043-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32380043C>T , CM000675.2:g.32380043C>T | GRCh38 |
| NC_000013.10:g.32954180C>T , CM000675.1:g.32954180C>T | GRCh37 |
| NC_000013.9:g.31852180C>T | NCBI36 |
| NG_012772.3:g.69564C>T , LRG_293:g.69564C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9154C>T | ENSP00000434898.2:p.Arg3052Trp | |
| ENST00000528762.2:c.*521C>T | ENSP00000433168.2:n.*521C>T | |
| ENST00000530893.7:c.8785C>T | ENSP00000499438.2:p.Arg2929Trp | |
| ENST00000665585.2:c.*716C>T | ENSP00000499570.2:n.*716C>T | |
| ENST00000666593.2:c.9154C>T | ENSP00000499256.2:p.Arg3052Trp | |
| ENST00000700202.2:c.9103C>T | ENSP00000514856.2:p.Arg3035Trp | |
| ENST00000700202.1:c.1570C>T | ENSP00000514856.1:p.Arg524Trp | |
| ENST00000700203.1:n.1281C>T | ||
| ENST00000380152.8:c.9154C>T MANE Select | ENSP00000369497.3:p.Arg3052Trp | |
| ENST00000544455.6:c.9154C>T | ENSP00000439902.1:p.Arg3052Trp | |
| ENST00000614259.2:c.9162C>T | ENSP00000506251.1:n.9162C>T | |
| ENST00000665585.1:c.2032C>T | ||
| ENST00000666593.1:c.37C>T | ENSP00000499256.1:p.Arg13Trp | |
| ENST00000680887.1:c.9154C>T | ENSP00000505508.1:p.Arg3052Trp | |
| ENST00000380152.7:c.9154C>T | ENSP00000369497.3:p.Arg3052Trp | |
| ENST00000470094.1:c.111C>T | ||
| ENST00000544455.5:c.9154C>T | ENSP00000439902.1:p.Arg3052Trp | |
| NM_000059.3:c.9154C>T , LRG_293t1:c.9154C>T | NP_000050.2:p.Arg3052Trp | |
| XM_011535203.1:c.9154C>T | XP_011533505.1:p.Arg3052Trp | |
| XM_011535204.1:c.9058C>T | XP_011533506.1:p.Arg3020Trp | |
| NM_000059.4:c.9154C>T MANE Select | NP_000050.3:p.Arg3052Trp |